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1 OMIM reference -
4 associated genes
14 signs/symptoms
PROTEIN INTERACTIONS: 1
1 associated gene
35 signs/symptoms
Follicular lymphoma
Kleefstra syndrome due to 9q34 microdeletion

BCL2 EHMT1
BCL6
HLA-DRB1
IGH


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
BCL6
(0.72)
EHMT1



Citations in the biomedical literature:


Follicular lymphoma
BCL2 BCL6 HLA-DRB1 IGH
Kleefstra syndrome due to 9q34 microdeletion
EHMT1



Follicular lymphoma
Kleefstra syndrome due to 9q34 microdeletion

Synonym(s):
(no synonyms)

Synonym(s):
- 9q subtelomeric deletion syndrome
- 9qSTDS
- Kleefstra syndrome due to 9q subtelomeric deletion
- Kleefstra syndrome due to del(9)(q34)
- Kleefstra syndrome due to monosomy 9q34

Classification (Orphanet):
- Rare hematologic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: adulthood
Average age of death: adult
Type of inheritance: multigenic/multifactorial
Epidemiological data:
(no data available)

External references:
1 OMIM reference -
1 MeSH reference: D008224
External references:
No OMIM references
No MeSH references

Follicular lymphoma
Kleefstra syndrome due to 9q34 microdeletion

Very frequent
- Fever / chilling
- Hematologic / blood / lymphatic cancer
- Hyperhidrosis / increased sweating
- Lymphadenopathy / polyadenopathies
- Weight loss / loss of appetite / break in weight curve / general health alteration

Frequent
- Asthenia / fatigue / weakness
- Mediastinal / hilar adenopathies
- Splenomegaly

Occasional
- Abnormal pleura / hydrothorax / pleuresia / pleural effusion / chylothorax
- Anomalies of skin, subcutaneous tissue and mucosae
- Bone marrow / medullar infiltration
- Lymphedema
- Meningitis / meningeal syndrome
- Structural anomaly of the peritoneum


Very frequent
- Anteverted nares / nostrils
- Brachycephaly / flat occiput
- Everted lower lip
- High arched eyebrows
- Hypertelorism
- Hypotonia
- Insterstitial / subtelomeric microdeletion / deletion
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Short / small nose
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Frequent
- Cardiac septal defect
- Downturned mouth
- Generalized obesity
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Microcephaly
- Mid-facial hypoplasia / short / small midface
- Seizures / epilepsy / absences / spasms / status epilepticus
- Synophris / synophrys
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Occasional
- Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid
- Autism / autistic disoders
- Corpus callosum / septum pellucidum total / partial agenesis
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Dilated cerebral ventricles without hydrocephaly
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hearing loss / hypoacusia / deafness
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption
- Inguinal / inguinoscrotal / crural hernia
- Micropenis / small penis / agenesis
- Renal failure
- Sleep and vigilance disorders
- Tetralogy of Fallot / trilogy of Fallot
- Umbilical hernia
- Vesicorenal / vesicoureteral reflux